First Report of a Patient with MPS Type VII, Due to Novel Mutations in GUSB, Who Underwent Enzyme Replacement and Then Hematopoietic Stem Cell Transplantation

We report the case of a boy who was diagnosed with mucopolysaccharidosis (MPS) VII at two weeks of age. He harbored three missense β-glucuronidase (GUSB) variations in exon 3: two novel, c.422A>C and c.424C>T, inherited from his mother, and the rather common c.526C>T, inherited from his fat...

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Detalles Bibliográficos
Autores principales: Dubot, Patricia, Sabourdy, Frédérique, Plat, Geneviève, Jubert, Charlotte, Cancès, Claude, Broué, Pierre, Touati, Guy, Levade, Thierry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6861985/
https://www.ncbi.nlm.nih.gov/pubmed/31661765
http://dx.doi.org/10.3390/ijms20215345

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6861985/
https://www.ncbi.nlm.nih.gov/pubmed/31661765
http://dx.doi.org/10.3390/ijms20215345

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